Low incidence of alpha-1-antitrypsin deficiency in Iranian patients with neonatal cholestasis.

Abstract

BACKGROUND/AIMS There is little data concerning the incidence of alpha-1-antitrypsin"(AAT) deficiency, the most common genetic cause of liver disease, among children with neonatal cholestasis in Iran. Thus, this study was performed to analyze AAT deficiency in this group of patients. MATERIALS AND METHODS DNA samples from patients with neonatal cholestasis were investigated for Pi S and Pi Z alleles, using polymerase chain reaction-restriction fragment length polymorphism. RESULTS Thirty patients with neonatal cholestasis were enrolled. Among those who underwent biopsies, the results revealed neonatal hepatitis in 19, bile duct paucity in 1, steatohepatitis in 1, bile duct proliferation in 1, cirrhosis in 2, fibrosis in 2, and extrahepatic biliary atresia in 1 patient. No mutant allele was found in any patient. CONCLUSION The incidence of AAT deficiency is very low in Iran; therefore, screening for AAT is not recommended for patients with neonatal cholestasis in Iran.

DOI: 10.5152/tjg.2015.6339

Cite this paper

@article{Motamed2015LowIO, title={Low incidence of alpha-1-antitrypsin deficiency in Iranian patients with neonatal cholestasis.}, author={Farzaneh Motamed and Sanaz Mehrabani and Maryam Monajemzadeh and Mohammad Taghi Haghi Ashtiani and Sima Hosseinverdi and Masoud Houshmand and Omid Aryani and Mehri Najafi and Fatemeh Mohammadi Farahmand and Mohammad Ali Kiani and Ahmad Khodadad and Gholam Hossein Fallahi and Gholamreza Khatami and Nima Rezaei}, journal={The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology}, year={2015}, volume={26 3}, pages={251-3} }